| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852936G>A | CA273357 | PAH | c.721C>T (p.Arg241Cys) c.706C>T (p.Arg236Cys) n.480C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852936G>T | CA386295836 | PAH | c.721C>A (p.Arg241Ser) c.706C>A (p.Arg236Ser) n.480C>A | ClinVar dbSNP |
| 12 | g.102852936G= | CA2059446698 | PAH | c.721C= (p.Arg241=) c.706C= (p.Arg236=) n.480C= | dbSNP |
| 12 | g.102852936G>C | CA386295833 | PAH | c.721C>G (p.Arg241Gly) c.706C>G (p.Arg236Gly) n.480C>G | dbSNP |